A5103007099- Glioma Diagnosis and Treatment
- Parkinson's Disease Mechanisms and Treatments
- Neurofibromatosis and Schwannoma Cases
- Alzheimer's disease research and treatments
- Muscle Physiology and Disorders
- Cardiomyopathy and Myosin Studies
- Bone Tumor Diagnosis and Treatments
- Neurogenetic and Muscular Disorders Research
- Tumors and Oncological Cases
- Neurological diseases and metabolism
- Inflammatory Myopathies and Dermatomyositis
- Teratomas and Epidermoid Cysts
- Peptidase Inhibition and Analysis
- Meningioma and schwannoma management
- Ubiquitin and proteasome pathways
- Head and Neck Surgical Oncology
- Genetic Neurodegenerative Diseases
- Neurological and metabolic disorders
- Botulinum Toxin and Related Neurological Disorders
- Neuroblastoma Research and Treatments
- Spinal Dysraphism and Malformations
- Vascular Malformations Diagnosis and Treatment
- Oral and Maxillofacial Pathology
- Nuclear Structure and Function
- Cerebrovascular and genetic disorders
Montefiore Medical Center
2022-2024
Albert Einstein College of Medicine
2019-2024
New York University
1987-2017
University of Utah
2006-2013
Research to Prevent Blindness
2013
University of Toronto
2012
Hospital for Sick Children
2012
SickKids Foundation
2012
Mayo Clinic
2011
Noblis
2010
A working group supported by the Office of Rare Diseases National Institutes Health formulated neuropathologic criteria for corticobasal degeneration (CBD) that were subsequently validated an independent neuropathologists. The do not require a specific clinical phenotype, since CBD can have diverse presentations, such as progressive asymmetrical rigidity and apraxia, aphasia, or frontal lobe dementia. Cortical atrophy, ballooned neurons, substantia nigra been emphasized in previous...
Although numerous families with cerebral autosomal dominant arteriopathy subcortical infarcts and leukoencephalopathy (CADASIL) have been reported, our understanding of the disease remains incomplete. Thus, we performed this study to investigate phenotypic range natural history CADASIL.We a pooled analysis previously published cases.We identified 105 symptomatic patients in 33 families. Vascular risk factors were uncommon, hypertension reported only 8 patients. The mean age symptom onset was...
The outcome of injury was determined in 317 children who were brought to a children's trauma center with history from the caretaker that child had fallen. Cases which clinicians' judgment an incorrect been given included along cases not questioned. Seven deaths occurred 100 fell 4 feet or less. One death 117 10 45 feet. 7 died short falls all other factors their suggested false histories. When incur fatal injuries less than feet, is incorrect. Long outdoor component are likely be reliable...
Reducing body myopathy (RBM) is a rare disorder causing progressive muscular weakness characterized by aggresome-like inclusions in the myofibrils. Identification of genes responsible for RBM traditional genetic approaches has been impossible due to frequently sporadic occurrence affected patients and small family sizes. As an alternative approach gene identification, we used laser microdissection intracytoplasmic identified patient muscle biopsies, followed nanoflow liquid...
Celiac disease (CD) is increasingly recognized in North America and associated with a peripheral neuropathy.To report the clinical characteristics skin biopsy results patients CD small-fiber neuropathy symptoms.Case series.Academic clinic.Eight symptoms. Intervention Three-millimeter punch using panaxonal marker protein gene product 9.5 to assess epidermal nerve fiber (ENF) density gluten-free diet.Clinical data ENF density.All had asymmetric numbness paresthesias. Three more prominent...
<b>BACKGROUND AND PURPOSE:</b> Pilomyxoid astrocytoma (PMA) is a recently described variant of pilocytic (PA) with unique clinical and histopathologic characteristics. Because the histopathology PMA distinct from that PA, we hypothesized PMAs would display distinctive imaging We retrospectively reviewed findings in large number patients to identify these <b>MATERIALS METHODS:</b> CT MR images, pathology reports, information 21 pathology-confirmed 7 institutions were reviewed. findings,...
Recent studies have shown that progressive supranuclear palsy (PSP) could be inherited, but the pattern of inheritance and spectrum clinical findings in relatives are unknown. We here report 12 pedigrees, confirmed by pathology four probands, with familial PSP. Pathological diagnosis was according to recently reported internationally agreed criteria. The phenotypes these families variable including 34 typical cases PSP (12 probands plus 22 secondary cases), three patients postural tremor,...
The authors describe three patients with reversible leukoencephalopathy associated cerebral amyloid angiopathy (CAA). Rapid progression of neurologic symptoms was followed by dramatic clinical and radiographic improvement. Pathologically, CAA varying degrees inflammation ranging from none to transmural granulomatous infiltration. In the appropriate context, MRI finding lobar white matter edema evidence prior hemosiderin deposition may indicate presence a leukoencephalopathy.
We recently identified the X-chromosomal four and a half LIM domain gene FHL1 as causative for reducing body myopathy, disorder characterized by progressive weakness intracytoplasmic aggregates in muscle that exert activity on menadione nitro-blue-tetrazolium (NBT). The mutations detected affected highly conserved zinc coordinating residues within second lead to formation of when transfected into cells. Our aim was define clinical morphological phenotype this myopathy assess mutational...
The purpose of this study was to determine the role high-resolution T2-weighted fast multiplanar inversion-recovery (FMPIR) magnetic resonance (MR) imaging in detecting and delineating microscopic focal cortical dysplasia (FCD). We performed MR scans with FMPIR on 42 patients suspected neocortical epilepsy. Ten studies were read prospectively as showing FCD; these case histories, electroencephalographic studies, neuroimaging data reviewed. Eight subsequently underwent resection guided by...
Objectives: To compare the sensitivity and specificity of clinical diagnosis Alzheimer disease, distribution pathological causes, demographic characteristics 2 different groups patients with dementia.Design: Retrospective clinicopathological study.Setting: A memory disorder clinic in a university hospital multiethnic community.Patients: Sixty-three from 26 large community-based study who underwent autopsy after evaluation.Main Outcome Measures: Differential findings, correlations.Results:...
Some pathologic features of the FHL1 myopathies and myofibrillar (MFMs) overlap; we therefore searched for mutations in our cohort 50 patients with genetically undiagnosed MFM.Mutations were identified by direct sequencing. Polymorphisms excluded using allele-specific PCR 200 control subjects. Structural changes muscle analyzed histochemistry, immunocytochemistry, electron microscopy.We detected 2 novel 1 previously missense mutation 5 patients. Patients 1-4 presented before age 30, display...
<b>Objective: </b> To expand the reported phenotypic range of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). <b>Background: Despite numerous patient reports, our knowledge CADASIL remains incomplete. <b>Method: We performed clinical, pathologic, radiologic examinations on members a family CADASIL. <b>Results: The proband is 61-year-old man history migraine depression who has experienced multiple infarctions resulting in stepwise decline....
Object Brain capillary telangiectasias (BCTs) are small, clinically benign, angiographically occult lesions that usually incidental findings. Large have not been reported previously as most BCTs very small. Symptomatic also rare, with few reports in the literature. The authors review clinical manifestations, imaging, and histopathological characteristics of to further elucidate diagnostic features these vascular malformations. Methods completed a retrospective radiological all cases...
Abstract Medulloblastomas are malignant brain tumors that arise in the cerebellum children and disseminate via cerebrospinal fluid to leptomeningeal spaces of spinal cord. Challenged by poor prognosis for patients with metastatic dissemination, pediatric oncologists have developed aggressive treatment protocols, combining surgery, craniospinal radiation, high-dose chemotherapy, often cause disabling neurotoxic effects long-term survivors. Insights into genetic control medulloblastoma...
<h3>Background</h3> Alzheimer disease (AD) is characterized by memory and visuospatial deficits with relative sparing of personality. Mutations in 3 genes (presenilin 1 2 amyloid precursor protein) are associated presenile AD. Presenilin gene mutations have not been described African Americans. <h3>Methods</h3> We studied an American family autosomal dominant rapidly progressive dementia psychosis occurring early the fifth decade life. performed neurologic evaluations, psychometrics,...
Abstract Objective To investigate whether biochemical insoluble tau with 4 (4R) and/or 3 (3R) microtubule‐binding repeats accumulate in white as well gray matter progressive supranuclear palsy (PSP), a neurodegenerative tauopathy. Methods assess pathology PSP matter, we combined Western blot (WB) and immunohistochemical methods to analyze 23 autopsy‐confirmed brains. Results WBs showed an unexpected abundance of brains, but was not correlated immunohistochemistry using the same panel...